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Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives
Author(s) -
GeertsCrabbé Laura,
Antoine Pascal,
Brugallé Elodie,
Ghoumid Jamal,
Bellengier Laurence,
Edery Patrick,
Heron Delphine,
ManouvrierHanu Sylvie,
FantiniHauwel Carole
Publication year - 2019
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1002/jgc4.1153
Subject(s) - interpretative phenomenological analysis , genetic counseling , medicine , psychological intervention , affect (linguistics) , qualitative research , cognition , social isolation , clinical psychology , physical therapy , pediatrics , psychology , psychiatry , social science , genetics , communication , sociology , biology
Abstract Nail‐Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi‐structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis. Results highlighted attempts to look like a person without disabilities by hiding malformations and not telling the truth about symptoms' genetic origin because of patients' poor self‐esteem, negative self‐cognition, and social isolation experienced from childhood to adulthood. Difficulties of adaptation to physical limits and pain were also identified. The majority of participants who were not diagnosed at birth tended to consider physical symptoms as “birth malformations” without imagining other potential implications until receiving a diagnosis. Despite the diagnosis, the majority continued to minimize the potential complications by considering NPS as a “physical difference” and not adhering to medical surveillance.